Variant report

Variant	rs12675239
Chromosome Location	chr8:103651690-103651691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103645767..103647701-chr8:103650760..103653199,2	MCF-7	breast:
2	chr8:103612523..103614553-chr8:103650121..103652108,2	MCF-7	breast:
3	chr8:103650009..103652770-chr8:103818446..103820677,2	K562	blood:
4	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12546601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12547574	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12548858	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12549399	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12674646	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675196	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680362	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12680598	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680908	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12682093	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1318752	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16869664	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs16869676	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16869695	0.87[ASN][1000 genomes]
rs16869724	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2388192	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2436946	0.84[ASN][1000 genomes]
rs2471847	0.88[ASN][1000 genomes]
rs2511701	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2511718	0.88[ASN][1000 genomes]
rs2511719	0.88[ASN][1000 genomes]
rs2511730	0.88[ASN][1000 genomes]
rs2513924	0.83[AFR][1000 genomes]
rs2734824	0.84[ASN][1000 genomes]
rs2916570	0.87[ASN][1000 genomes]
rs3018443	0.90[EUR][1000 genomes]
rs56398883	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs56929055	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60320584	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72685103	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72685104	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72685109	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72685110	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685117	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72685118	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72685123	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72685128	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73276720	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9642792	0.89[ASN][1000 genomes]
rs980112	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103644800-103659600	Weak transcription	Spleen	Spleen
2	chr8:103645600-103660000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:103647000-103661600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:103647000-103662000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:103647000-103662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103648200-103661800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:103649000-103659800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:103649600-103659800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:103649800-103662000	Weak transcription	Fetal Stomach	stomach
10	chr8:103650000-103659600	Weak transcription	Placenta	Placenta
11	chr8:103650200-103660000	Weak transcription	Colon Smooth Muscle	Colon

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